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The Underlying Causes of Heart Defects

Approximately 1 in 125 babies is born with a congenital heart defect. Why do their hearts form incorrectly? The genetic code holds some of the answers — answers that could lead to better methods of treatment and prevention.

Elizabeth Goldmuntz, MD, who has been a pediatric cardiologist at CHOP for 14 years, is part of a group of researchers here who are studying the underlying causes of heart defects. In one of the largest studies of its kind, her team has collected data on more than 1,300 patients with conotruncal heart defects and 800 patients with left-sided heart defects, which begin in the earliest stages of fetal heart development.

Dr. Goldmuntz is studying the relationship between genes and heart defects. She is also taking the research a step further by examining whether genes affect patient outcomes, such as survival rates after open heart surgery and long-term health.

“We hope we can find out why a child is born with a heart defect, and then find ways to prevent that from happening,” Dr. Goldmuntz says. “We also think that if we understand why a child is born with a heart defect, we can design better clinical and surgical strategies to improve outcome.”

The project epitomizes Cardiac Center research. Here, the brightest minds are supported by the best technology, generous donors, and large numbers of families willing to take part because they trust their doctors and believe their research may someday prevent another child from going through what their children have experienced.

Research funding

Like many of our research projects, funding comes from numerous sources. Dr. Goldmuntz is primarily supported by the National Institutes of Health (NIH), the government agency that supports scientific research; but an individual donor, Ida Newman, who is committed to research in this area, has provided significant additional funding. Newman first supported Dr. Goldmuntz as a fellow in training and has continued to fund these studies.

Dr. Goldmuntz is currently trying to renew her funding from the NIH to continue this work. Given the increasingly limited resources coming from the NIH, Goldmuntz and other researchers need additional sources of support. By making a contribution to the Cardiac Center, you serve as that support. You help doctors like Dr. Goldmuntz pursue important and unique studies with the potential to reach a tiny heart, forming in the womb.